nsv4453653
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:712,722
- Description:NC_000017.11:g.(?_7669599)_(8382320_?)del AND Li-Fraumeni syndrome
- Publication(s):Lu et al. 2014, No authors et al. 2021, No authors et al. 2021, Saslow et al. 2007, Schneider et al. 1999
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2504 SVs from 84 studies. See in: genome view
Overlapping variant regions from other studies: 2504 SVs from 84 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv4453653 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 7,669,599 | 8,382,320 |
| nsv4453653 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 7,572,917 | 8,285,638 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771643 | deletion | Multiple | Multiple | Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome | Pathogenic | ClinVar | RCV000803922.4, VCV000649065.3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15771643 | Submitted genomic | NC_000017.11:g.(?_ 7669599)_(8382320_ ?)del | GRCh38 (hg38) | NC_000017.11 | Chr17 | 7,669,599 | 8,382,320 |
| nssv15771643 | Submitted genomic | NC_000017.10:g.(?_ 7572917)_(8285638_ ?)del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 7,572,917 | 8,285,638 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15771643 | GRCh37: NC_000017.10:g.(?_7572917)_(8285638_?)del, GRCh38: NC_000017.11:g.(?_7669599)_(8382320_?)del | deletion | germline | Li-Fraumeni Syndrome; Li-Fraumeni syndrome; Li-Fraumeni syndrome | Pathogenic | ClinVar | RCV000803922.4, VCV000649065.3 |